Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: S1PR2: 919A>T; Arg307Trp
Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.
Nature Communications
Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK
Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.
Iscience
Lau, David K DK; Mouradov, Dmitri D; Wasenang, Wiphawan W; Luk, Ian Y IY; Scott, Cameron M CM; Williams, David S DS; Yeung, Yvonne H YH; Limpaiboon, Temduang T; Iatropoulos, George F GF; Jenkins, Laura J LJ; Reehorst, Camilla M CM; Chionh, Fiona F; Nikfarjam, Mehrdad M; Croagh, Daniel D; Dhillon, Amardeep S AS; Weickhardt, Andrew J AJ; Muramatsu, Toshihide T; Saito, Yoshimasa Y; Tebbutt, Niall C NC; Sieber, Oliver M OM; Mariadason, John M JM
Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas.
British Journal Of Cancer
Bonora, E E; Evangelisti, C C; Bonichon, F F; Tallini, G G; Romeo, G G